Hypertrophic cardiomyopathy

A heart in need of an energy bar?

Styliani Vakrou, M. Roselle Abraham

Research output: Contribution to journalArticle

Abstract

Hypertrophic cardiomyopathy (HCM) has been recently recognized as the most common inherited cardiovascular disorder, affecting 1 in 500 adults worldwide. HCM is characterized by myocyte hypertrophy resulting in thickening of the ventricular wall, myocyte disarray, interstitial and/or replacement fibrosis, decreased ventricular cavity volume and diastolic dysfunction. HCM is also the most common cause of sudden death in the young. A large proportion of patients diagnosed with HCM have mutations in sarcomeric proteins. However, it is unclear how these mutations lead to the cardiac phenotype, which is variable even in patients carrying the same causal mutation. Abnormalities in calcium cycling, oxidative stress, mitochondrial dysfunction and energetic deficiency have been described constituting the basis of therapies in experimental models of HCM and HCM patients. This review focuses on evidence supporting the role of cellular metabolism and mitochondria in HCM.

Original languageEnglish (US)
Article numberArticle 309
JournalFrontiers in Physiology
Volume5 AUG
DOIs
StatePublished - 2014

Fingerprint

Hypertrophic Cardiomyopathy
Muscle Cells
Mutation
Sudden Death
Hypertrophy
Cause of Death
Mitochondria
Oxidative Stress
Fibrosis
Theoretical Models
Calcium
Phenotype
Proteins

Keywords

  • Bioenergetic deficit
  • Calcium handling
  • Hypertrophic cardiomyopathy
  • Induced pluripotent stem cells (iPSCs)
  • Mitochondria

ASJC Scopus subject areas

  • Physiology
  • Physiology (medical)

Cite this

Hypertrophic cardiomyopathy : A heart in need of an energy bar? / Vakrou, Styliani; Abraham, M. Roselle.

In: Frontiers in Physiology, Vol. 5 AUG, Article 309, 2014.

Research output: Contribution to journalArticle

Vakrou, Styliani ; Abraham, M. Roselle. / Hypertrophic cardiomyopathy : A heart in need of an energy bar?. In: Frontiers in Physiology. 2014 ; Vol. 5 AUG.
@article{014e6b853d64466393d46e476d262f24,
title = "Hypertrophic cardiomyopathy: A heart in need of an energy bar?",
abstract = "Hypertrophic cardiomyopathy (HCM) has been recently recognized as the most common inherited cardiovascular disorder, affecting 1 in 500 adults worldwide. HCM is characterized by myocyte hypertrophy resulting in thickening of the ventricular wall, myocyte disarray, interstitial and/or replacement fibrosis, decreased ventricular cavity volume and diastolic dysfunction. HCM is also the most common cause of sudden death in the young. A large proportion of patients diagnosed with HCM have mutations in sarcomeric proteins. However, it is unclear how these mutations lead to the cardiac phenotype, which is variable even in patients carrying the same causal mutation. Abnormalities in calcium cycling, oxidative stress, mitochondrial dysfunction and energetic deficiency have been described constituting the basis of therapies in experimental models of HCM and HCM patients. This review focuses on evidence supporting the role of cellular metabolism and mitochondria in HCM.",
keywords = "Bioenergetic deficit, Calcium handling, Hypertrophic cardiomyopathy, Induced pluripotent stem cells (iPSCs), Mitochondria",
author = "Styliani Vakrou and Abraham, {M. Roselle}",
year = "2014",
doi = "10.3389/fphys.2014.00309",
language = "English (US)",
volume = "5 AUG",
journal = "Frontiers in Physiology",
issn = "1664-042X",
publisher = "Frontiers Research Foundation",

}

TY - JOUR

T1 - Hypertrophic cardiomyopathy

T2 - A heart in need of an energy bar?

AU - Vakrou, Styliani

AU - Abraham, M. Roselle

PY - 2014

Y1 - 2014

N2 - Hypertrophic cardiomyopathy (HCM) has been recently recognized as the most common inherited cardiovascular disorder, affecting 1 in 500 adults worldwide. HCM is characterized by myocyte hypertrophy resulting in thickening of the ventricular wall, myocyte disarray, interstitial and/or replacement fibrosis, decreased ventricular cavity volume and diastolic dysfunction. HCM is also the most common cause of sudden death in the young. A large proportion of patients diagnosed with HCM have mutations in sarcomeric proteins. However, it is unclear how these mutations lead to the cardiac phenotype, which is variable even in patients carrying the same causal mutation. Abnormalities in calcium cycling, oxidative stress, mitochondrial dysfunction and energetic deficiency have been described constituting the basis of therapies in experimental models of HCM and HCM patients. This review focuses on evidence supporting the role of cellular metabolism and mitochondria in HCM.

AB - Hypertrophic cardiomyopathy (HCM) has been recently recognized as the most common inherited cardiovascular disorder, affecting 1 in 500 adults worldwide. HCM is characterized by myocyte hypertrophy resulting in thickening of the ventricular wall, myocyte disarray, interstitial and/or replacement fibrosis, decreased ventricular cavity volume and diastolic dysfunction. HCM is also the most common cause of sudden death in the young. A large proportion of patients diagnosed with HCM have mutations in sarcomeric proteins. However, it is unclear how these mutations lead to the cardiac phenotype, which is variable even in patients carrying the same causal mutation. Abnormalities in calcium cycling, oxidative stress, mitochondrial dysfunction and energetic deficiency have been described constituting the basis of therapies in experimental models of HCM and HCM patients. This review focuses on evidence supporting the role of cellular metabolism and mitochondria in HCM.

KW - Bioenergetic deficit

KW - Calcium handling

KW - Hypertrophic cardiomyopathy

KW - Induced pluripotent stem cells (iPSCs)

KW - Mitochondria

UR - http://www.scopus.com/inward/record.url?scp=84906490700&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84906490700&partnerID=8YFLogxK

U2 - 10.3389/fphys.2014.00309

DO - 10.3389/fphys.2014.00309

M3 - Article

VL - 5 AUG

JO - Frontiers in Physiology

JF - Frontiers in Physiology

SN - 1664-042X

M1 - Article 309

ER -